| Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease DB Beck, MA Ferrada, KA Sikora, AK Ombrello, JC Collins, W Pei, ... New England Journal of Medicine 383 (27), 2628-2638, 2020 | 687 | 2020 |
| Biallelic hypomorphic mutations in a linear deubiquitinase define otulipenia, an early-onset autoinflammatory disease Q Zhou, X Yu, E Demirkaya, N Deuitch, D Stone, WL Tsai, HS Kuehn, ... Proceedings of the National Academy of Sciences 113 (36), 10127-10132, 2016 | 230 | 2016 |
| A dominant autoinflammatory disease caused by non-cleavable variants of RIPK1 P Tao, J Sun, Z Wu, S Wang, J Wang, W Li, H Pan, R Bai, J Zhang, ... Nature 577 (7788), 109-114, 2020 | 187 | 2020 |
| Treatment strategies for deficiency of adenosine deaminase 2 AK Ombrello, J Qin, PM Hoffmann, P Kumar, D Stone, A Jones, T Romeo, ... The New England journal of medicine 380 (16), 1582, 2019 | 162 | 2019 |
| The Miraprep: A protocol that uses a Miniprep kit and provides Maxiprep yields MI Pronobis, N Deuitch, M Peifer PLoS One 11 (8), e0160509, 2016 | 74 | 2016 |
| Revisiting TNF receptor-associated periodic syndrome (TRAPS): current perspectives C Cudrici, N Deuitch, I Aksentijevich International Journal of Molecular Sciences 21 (9), 3263, 2020 | 71 | 2020 |
| Haploinsufficiency of A20 (HA20): updates on the genetics, phenotype, pathogenesis and treatment MP Yu, XS Xu, Q Zhou, N Deuitch, MP Lu World Journal of Pediatrics 16, 575-584, 2020 | 56 | 2020 |
| Deficiency of adenosine deaminase 2 in adult siblings: many years of a misdiagnosed disease with severe consequences JM Springer, SA Gierer, H Jiang, D Kleiner, N Deuitch, AK Ombrello, ... Frontiers in immunology 9, 1361, 2018 | 55 | 2018 |
| Aberrant tRNA processing causes an autoinflammatory syndrome responsive to TNF inhibitors A Giannelou, H Wang, Q Zhou, YH Park, MS Abu-Asab, K Ylaya, ... Annals of the rheumatic diseases 77 (4), 612-619, 2018 | 53 | 2018 |
| The spectrum of the deficiency of adenosine deaminase 2: an observational analysis of a 60 patient cohort KS Barron, I Aksentijevich, NT Deuitch, DL Stone, P Hoffmann, ... Frontiers in immunology 12, 811473, 2022 | 45 | 2022 |
| Brief report: deficiency of complement 1r subcomponent in early‐onset systemic lupus erythematosus: the role of disease‐modifying alleles in a monogenic disease E Demirkaya, Q Zhou, CK Smith, MJ Ombrello, N Deuitch, WL Tsai, ... Arthritis & Rheumatology 69 (9), 1832-1839, 2017 | 40 | 2017 |
| Deficiency of adenosine deaminase 2 (DADA2): hidden variants, reduced penetrance, and unusual inheritance O Schnappauf, Q Zhou, NS Moura, AK Ombrello, DG Michael, N Deuitch, ... Journal of clinical immunology 40, 917-926, 2020 | 37 | 2020 |
| Reconstituting regulation of the canonical Wnt pathway by engineering a minimal β-catenin destruction machine MI Pronobis, N Deuitch, V Posham, Y Mimori-Kiyosue, M Peifer Molecular biology of the cell 28 (1), 41-53, 2017 | 31 | 2017 |
| TNF inhibition in vasculitis management in adenosine deaminase 2 deficiency (DADA2) NT Deuitch, D Yang, PY Lee, X Yu, NS Moura, O Schnappauf, ... Journal of Allergy and Clinical Immunology 149 (5), 1812-1816. e6, 2022 | 26 | 2022 |
| Gain-of-function mutations in ALPK1 cause an NF-κB-mediated autoinflammatory disease: functional assessment, clinical phenotyping and disease course of patients with ROSAH syndrome CT Kozycki, S Kodati, L Huryn, H Wang, BM Warner, P Jani, D Hammoud, ... Annals of the rheumatic diseases 81 (10), 1453-1464, 2022 | 24 | 2022 |
| Variant STAT4 and Response to Ruxolitinib in an Autoinflammatory Syndrome H Baghdassarian, SA Blackstone, OS Clay, R Philips, B Matthiasardottir, ... New England Journal of Medicine 388 (24), 2241-2252, 2023 | 18 | 2023 |
| RUNX1 familial platelet disorder with associated myeloid malignancies N Deuitch, E Broadbridge, L Cunningham, P Liu | 16 | 2021 |
| Attitudes toward hypothetical uses of gene-editing technologies in parents of people with autosomal aneuploidies E Snure Beckman, N Deuitch, M Michie, MA Allyse, KA Riggan, ... The CRISPR Journal 2 (5), 324-330, 2019 | 14 | 2019 |
| “Doctors can read about it, they can know about it, but they've never lived with it”: How parents use social media throughout the diagnostic odyssey NT Deuitch, E Beckman, MC Halley, JL Young, CM Reuter, J Kohler, ... Journal of genetic counseling 30 (6), 1707-1718, 2021 | 13 | 2021 |
| Systematic evaluation of nine monogenic autoinflammatory diseases reveals common and disease-specific correlations with allergy-associated features DM Schwartz, MM Kitakule, BLP Dizon, C Gutierrez-Huerta, ... Annals of the rheumatic diseases 80 (6), 788-795, 2021 | 13 | 2021 |
